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Cellosaurus SDUBMSi011-A (CVCL_A7JF)

[Text version]
Cell line name SDUBMSi011-A
Accession CVCL_A7JF
Resource Identification Initiative To cite this cell line use: SDUBMSi011-A (RRID:CVCL_A7JF)
Comments From: School of Basic Medical Sciences, Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 20323; SMOC2; Simple; p.Leu359Arg (c.1076T>G); Zygosity=Heterozygous (PubMed=33892290).
Disease Multiple epiphyseal dysplasia (ORDO: Orphanet_251)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=33892290; DOI=10.1016/j.scr.2021.102353
Long F., Liu X.-L., Liu Y., Liu Q.-J., Sun W.-J.
An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene.
Stem Cell Res. 53:102353-102353(2021)

Cross-references
Cell line databases/resources hPSCreg; SDUBMSi011-A
Encyclopedic resources Wikidata; Q107116906
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4